Genetic syndromes and outcome after surgical repair of pulmonary atresia and ventricular septal defect

Ann Thorac Surg. 2012 Nov;94(5):1627-33. doi: 10.1016/j.athoracsur.2012.06.063. Epub 2012 Aug 9.


Background: Genetic syndromes, especially 22q11 deletion (del22q11) syndrome, are common in patients with pulmonary atresia and ventricular septal defect (PA-VSD), but their association with long-term outcomes varies. The purpose of this study was to evaluate the long-term outcome after complete repair of PA-VSD and to determine the impact of genetic syndromes.

Methods: We reviewed our experience of 125 patients with PA-VSD who received primary or staged repair between 1978 and 2010. Evaluations for genetic syndromes included clinical features, cytogenetic analysis, and fluorescence in situ hybridization or multiplex ligation-dependent probe amplification.

Results: Genetic syndromes were documented in 26 patients (20.8%), including del22q11 in 16 patients, trisomy 21 in 2 patients, and other syndromes in 8 patients. The prevalence of hypoplastic pulmonary arteries was not significantly different between the syndromic and nonsyndromic groups. After 1,069 patient-years of follow-up, 20-year survival was 90% ± 6% in patients without syndromes and 14% ± 23% in patients with syndromes (p < 0.01). Multivariate analysis identified the presence of a genetic syndrome as an important risk factor for hospital and late mortality. Subgroup analysis showed that genetic syndromes other than del22q11 were associated with worse outcome. The rate of 10-year freedom from cardiac reintervention after repair was 53% ± 11%, with hypoplastic pulmonary arteries before repair as a major risk factor (p = 0.02).

Conclusions: Genetic syndromes significantly affect survival after repair of PA-VSD, whereas genetic syndromes do not represent additional risk for reintervention. Repair is feasible in patients with syndromes, but suboptimal long-term outcome should be addressed when counseling parents.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Female
  • Heart Septal Defects, Ventricular / genetics*
  • Heart Septal Defects, Ventricular / mortality
  • Heart Septal Defects, Ventricular / surgery*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Pulmonary Atresia / genetics*
  • Pulmonary Atresia / mortality
  • Pulmonary Atresia / surgery*
  • Retrospective Studies
  • Risk Factors
  • Survival Rate
  • Syndrome
  • Time Factors
  • Treatment Outcome
  • Young Adult